FREQUENCY OF GENOTYPE WITH ΔF508 MUTATION IN CFTR GENE AMONG IRANIAN CYSTIC FIBROSIS PATIENTS WITH PANCREATIC INSUFFICIENCY (BRIEF REPORT)

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KHODADAD AHMAD; ELAHI ELAHEH; BANI HASSANI SETAREH SADAT; ROUHANI PEJMAN; SADEGHI BAMDAD; REZAEI NIMA

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Journal: Iranian Journal of Pediatrics Year:2015 | Volume:25 | Issue:6 Page(s): 0-0

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Title

FREQUENCY OF GENOTYPE WITH ΔF508 MUTATION IN CFTR GENE AMONG IRANIAN CYSTIC FIBROSIS PATIENTS WITH PANCREATIC INSUFFICIENCY (BRIEF REPORT)

Author(s)

Keywords

CYSTIC FIBROSIS

ΔF508 MUTATION

GENOTYPE

PHENOTYPE

Abstract

Background: CYSTIC FIBROSIS (CF) is the most prevalent lethal autosomal recessive disease with a broad spectrum of PHENOTYPEs. Mutation of DF508 in the CFTR gene is the most important and lethal mutation in CF, which contains 70% of all predisposing mutations for CF worldwide.Objectives: Determining frequency of GENOTYPEs with DF508 mutation in CFTR gene, and evaluation of correlation between GENOTYPE and PHENOTYPE of Iranian patients with CF.Patients and Methods: Thirty six patients were included in this cross sectional study. ΔF508 mutations in both alleles of the CFTR gene were checked.Results: Among 36 pediatric patients, DF508 mutation was detected in 9 (25%) patients; 2 patients were heterozygous, and 7 patients homozygous for this mutation. From overall 72 tracked alleles, 11 (15.2%) were found to have DF508 mutations. Differences in prevalence of dyspnea and bronchiectasis were significant in homozygote group, compared with non-mutated group for DF508.Conclusions: It seems that more DF508 mutated alleles lead to more severe symptoms of CF.

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APA: Copy

KHODADAD, AHMAD, ELAHI, ELAHEH, BANI HASSANI, SETAREH SADAT, ROUHANI, PEJMAN, SADEGHI, BAMDAD, & REZAEI, NIMA. (2015). FREQUENCY OF GENOTYPE WITH ΔF508 MUTATION IN CFTR GENE AMONG IRANIAN CYSTIC FIBROSIS PATIENTS WITH PANCREATIC INSUFFICIENCY (BRIEF REPORT). IRANIAN JOURNAL OF PEDIATRICS, 25(6), 0-0. SID. https://sid.ir/paper/665198/en

Vancouver: Copy

KHODADAD AHMAD, ELAHI ELAHEH, BANI HASSANI SETAREH SADAT, ROUHANI PEJMAN, SADEGHI BAMDAD, REZAEI NIMA. FREQUENCY OF GENOTYPE WITH ΔF508 MUTATION IN CFTR GENE AMONG IRANIAN CYSTIC FIBROSIS PATIENTS WITH PANCREATIC INSUFFICIENCY (BRIEF REPORT). IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2015;25(6):0-0. Available from: https://sid.ir/paper/665198/en

IEEE: Copy

AHMAD KHODADAD, ELAHEH ELAHI, SETAREH SADAT BANI HASSANI, PEJMAN ROUHANI, BAMDAD SADEGHI, and NIMA REZAEI, “FREQUENCY OF GENOTYPE WITH ΔF508 MUTATION IN CFTR GENE AMONG IRANIAN CYSTIC FIBROSIS PATIENTS WITH PANCREATIC INSUFFICIENCY (BRIEF REPORT),” IRANIAN JOURNAL OF PEDIATRICS, vol. 25, no. 6, pp. 0–0, 2015, [Online]. Available: https://sid.ir/paper/665198/en

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